Varaico: Literature-Extracted Genetic Variants

Gene:MINPP1
Variant:p.K184N

MINPP1

41 papers

RefSeq Summary

This gene encodes multiple inositol polyphosphate phosphatase; an enzyme that removes 3-phosphate from inositol phosphate substrates. It is the only enzyme known to hydrolzye inositol pentakisphosphat...

Pfam Domains

His_Phos_2aa 81–439UCSCHistidine phosphatase superfamily (branch 2)

Gene Aliases

HGNC Name

multiple inositol-polyphosphate phosphatase 1

HGNC Alias Symbol

MIPP

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_004897.5
p.K184N
c.552G>C
Surrounding Variants
1 paper
NM_004897.5
p.K184N
c.552G>T
1 paper
NM_004897.5
p.C187R
c.559T>C
4 papers
NM_004897.5
p.T181_S182insGAC
c.541_545ins9
1 paper
NM_004897.5
p.A158S
c.472G>T
1 paper
NM_004897.5
p.R151W
c.451C>T
1 paper
NM_004897.5
p.W141*
c.423G>A
1 paper
NM_004897.5
p.W141*
c.422G>A
1 paper
NM_004897.5
p.W134*
c.402G>A
1 paper
NM_004897.5
p.R103K
c.308G>A
2 papers
NM_004897.5
p.K101fs
c.301_302fs
2 papers
NM_004897.5
p.R100delFs
c.300delC
2 papers
NM_004897.5
p.E75fs
c.223_224fs
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